Canonical Allele Identifier: CA390745701

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941451C>G , CM000676.2:g.87941451C>G	GRCh38
NC_000014.8:g.88407795C>G , CM000676.1:g.88407795C>G	GRCh37
NC_000014.7:g.87477548C>G	NCBI36
NG_011853.2:g.57113G>C
NG_011853.3:g.57113G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1778G>C MANE Select	NP_000144.2:p.Arg593Thr
ENST00000261304.7:c.1778G>C MANE Select	ENSP00000261304.2:p.Arg593Thr
NM_000153.3:c.1778G>C	NP_000144.2:p.Arg593Thr
NM_001201401.1:c.1709G>C	NP_001188330.1:p.Arg570Thr
NM_001201401.2:c.1709G>C	NP_001188330.1:p.Arg570Thr
NM_001201402.1:c.1700G>C	NP_001188331.1:p.Arg567Thr
NM_001201402.2:c.1700G>C	NP_001188331.1:p.Arg567Thr
ENST00000261304.6:c.1778G>C	ENSP00000261304.2:p.Arg593Thr
ENST00000393568.8:c.1709G>C	ENSP00000377198.4:p.Arg570Thr
ENST00000393569.6:c.1700G>C	ENSP00000377199.2:p.Arg567Thr
ENST00000544807.6:c.1610G>C	ENSP00000437513.2:p.Arg537Thr
ENST00000555000.5:c.1145G>C	ENSP00000450472.1:p.Arg382Thr
ENST00000555179.1:c.314G>C
ENST00000557316.5:c.*1176G>C	ENSP00000452314.1:n.*1176G>C
XM_011536618.1:c.1610G>C	XP_011534920.1:p.Arg537Thr
XM_011536618.2:c.1610G>C	XP_011534920.1:p.Arg537Thr